Scad公司
张力减退
突变
酰基辅酶A脱氢酶
生物
内科学
基因型
复合杂合度
遗传学
胃肠病学
脱氢酶
内分泌学
医学
基因
生物化学
酶
心肌梗塞
作者
Yoo-Mi Kim,Chong Kun Cheon,Kyung Hee Park,Sung Won Park,Gu Hwan Kim,Han Wook Yoo,Kyung A. Lee,Jung Min Ko
出处
期刊:PubMed
日期:2016-07-01
卷期号:46 (4): 360-6
被引量:4
摘要
Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in mitochondrial short-chain β-oxidation, and its deficiency is caused by mutations in the ACADS We sought to investigate the spectrum ACADS mutations and associated clinical manifestations in Korean patients with SCAD deficiency. The study included ten patients with SCAD deficiency from 8 unrelated families as diagnosed by biochemical profile and mutation analyses. Clinical features, biochemical data, growth, and neurodevelopmental state were reviewed retrospectively. Eight patients were found during newborn screening, and two were diagnosed by family screening. During follow-up ranging from 2 months to 4.5 years, no hypoglycemic event was noted, and the development and growth of the patients were normal, except in two siblings. One exhibited hypotonia and gross motor delay, while one girl showed cyclic vomiting until the age of two years. We identified seven different mutations of ACADS Of these, p.E344G was the most frequent mutation with an allele frequency of 50%, followed by p.P55L with 18.8%. p.G108D and four novel mutations were identified: p.L93I, p.E228K, p.P377L, and p.R386H. Korean patients with SCAD deficiency showed heterogenous clinical features and ACADS genotype. Our data contributes to a better understanding of the distinct molecular genetic characteristics and clinical manifestations of SCAD deficiency.
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